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Oktober 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong 01. Januar 2001 / J Med Genet Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 R. Bayoumi K. Saar Y.A. Lee G. Nuernberg A. Reis M. Nur-E-Kamal L.I. Al Gazali 01. Juli 2001 / Nat Genet Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease R.C. Betz B.G.H. Schoser D. Kasper K. Ricker A. Ramirez V. Stein T. Torbergsen Y.A. Lee M.M. Nothen T.F. Wienker J.P. Malin P. Propping A. Reis W. Mortier T.J. Jentsch M. Vorgerd C. Kubisch 23. November 2001 / Circ Res The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system M.L. Bang T. Centner F. Fornoff A.J. Geach M. Gotthardt M. McNabb C.C. Witt D. Labeit C.C. Gregorio H. Granzier S. Labeit 09. Juli 2009 / Physiol Genomics Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1 H. Vogel M. Nestler F. Rueschendorf M.D. Block S. Tischer R. Kluge A. Schurmann H.G. Joost S. Scherneck 01. Oktober 2009 / Physiology (Bethesda) Potassium ion movement in the inner ear: insights from genetic disease and mouse models A.A. Zdebik P. Wangemann T.J. Jentsch 20. Oktober 2020 / J Genet Genomics Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong 01. Dezember 2009 / FASEB J Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7 L. Wartosch J.C. Fuhrmann M. Schweizer T. Stauber T.J. Jentsch 11. September 2009 / Circ Res Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction H.L. Granzier M.H. Radke J. Peng D. Westermann O.L. Nelson K. Rost N.M. King Q. Yu C. Tschoepe M. McNabb D.F. Larson S. Labeit M. Gotthardt 16. Oktober 2009 / J Mol Biol Altered contractility of skeletal muscle in mice deficient in titin's M-band region C.A. Ottenheijm C. Hidalgo K. Rost M. Gotthardt H. Granzier Seitennummerierung Aktuelle Seite 1 Seite 2 Seite 3 Seite 4 … Nächste Seite Next › Letzte Seite Last »
28. Oktober 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong
01. Januar 2001 / J Med Genet Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 R. Bayoumi K. Saar Y.A. Lee G. Nuernberg A. Reis M. Nur-E-Kamal L.I. Al Gazali
01. Juli 2001 / Nat Genet Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease R.C. Betz B.G.H. Schoser D. Kasper K. Ricker A. Ramirez V. Stein T. Torbergsen Y.A. Lee M.M. Nothen T.F. Wienker J.P. Malin P. Propping A. Reis W. Mortier T.J. Jentsch M. Vorgerd C. Kubisch
23. November 2001 / Circ Res The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system M.L. Bang T. Centner F. Fornoff A.J. Geach M. Gotthardt M. McNabb C.C. Witt D. Labeit C.C. Gregorio H. Granzier S. Labeit
09. Juli 2009 / Physiol Genomics Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1 H. Vogel M. Nestler F. Rueschendorf M.D. Block S. Tischer R. Kluge A. Schurmann H.G. Joost S. Scherneck
01. Oktober 2009 / Physiology (Bethesda) Potassium ion movement in the inner ear: insights from genetic disease and mouse models A.A. Zdebik P. Wangemann T.J. Jentsch
20. Oktober 2020 / J Genet Genomics Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong
01. Dezember 2009 / FASEB J Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7 L. Wartosch J.C. Fuhrmann M. Schweizer T. Stauber T.J. Jentsch
11. September 2009 / Circ Res Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction H.L. Granzier M.H. Radke J. Peng D. Westermann O.L. Nelson K. Rost N.M. King Q. Yu C. Tschoepe M. McNabb D.F. Larson S. Labeit M. Gotthardt
16. Oktober 2009 / J Mol Biol Altered contractility of skeletal muscle in mice deficient in titin's M-band region C.A. Ottenheijm C. Hidalgo K. Rost M. Gotthardt H. Granzier